ALK rearrangements-associated renal cell carcinoma (RCC) with unique pathological features in an adult

Jeanneau, Marie; Grégoire, V.; Desplechain, C; Escande, Fabienne; Tica, Dan Petre; Aubert, Sébastien; Leroy, Xavier

doi:10.1016/j.prp.2016.07.015

Cited by 24 publications

(33 citation statements)

References 12 publications

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“…In a recent prospective study of RCCs in paediatric and young adult patients, 3.8% were found to be ALK ‐rearranged . To our knowledge, since the first report in 2011, a total of 22 cases of ALK rearrangement‐associated RCC have been reported . The majority of patients were male (male/female ratio of 1.4:1), and they demonstrated a wide age range.…”

Section: Alk Rearrangement‐associated Rccmentioning

confidence: 96%

New and emerging renal entities: a perspective post‐WHO 2016 classification

2018

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Renal tumours include a heterogeneous and diverse spectrum of neoplasms. Recent advances in this field have significantly improved our understanding of the morphological, immunohistochemical, molecular, epidemiological and clinical characteristics of renal tumours, which led to the new Vancouver classification of renal neoplasia and the new World Health Organization (WHO) classification of renal cell tumours. This review aims to summarise the new information and evidence on several new and emerging/provisional renal entities, which were mostly generated after the recent classification of renal neoplasia. We include in this review the following new and emerging/provisional renal entities: succinate dehydrogenase‐deficient renal cell carcinoma, thyroid‐like follicular carcinoma of the kidney, anaplastic lymphoma kinase rearrangement‐associated renal cell carcinoma, renal cell carcinomas with prominent smooth muscle stroma, fumarate hydratase‐deficient renal cell carcinoma, biphasic squamoid papillary renal cell carcinoma, eosinophilic solid and cystic renal cell carcinoma, atrophic kidney‐like renal cell carcinoma, clear cell renal cell carcinoma with giant cells and emperipolesis, Warthin‐like papillary renal cell carcinoma, and low‐grade oncocytic renal tumour (CD117‐negative; cytokeratin 7‐positive). Some of these entities, such as succinate dehydrogenase‐deficient renal cell carcinoma, have already been recognised as new entities in the WHO classification, and some have been recognised as provisional/emerging entities. However, we include in this review several additional entities that, on the basis of the published evidence, also warrant this designation. We hope that this review will ease the navigation through this complex and evolving field, and will inform and stimulate new studies and discussions.

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Section: Alk Rearrangement‐associated Rccmentioning

confidence: 96%

New and emerging renal entities: a perspective post‐WHO 2016 classification

2018

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“…Initially, ALK rearrangements were described in pediatric RCC cases, but further investigations showed that a small proportion of adult RCCs belong to this ALK ‐rearranged category . ALK ‐rearranged RCC is a distinct type of disease included in the so‐called class of emerging/provisional RCCs . Several gene partners, including VCL , TPM3 , striatin ( STRN ), echinoderm microtubule‐associated protein like 4 ( EML4 ), and HOOK1 , have been reported in cases of RCC to date .…”

Section: Alk Rearrangements In Pediatric Cancersmentioning

confidence: 99%

The role of anaplastic lymphoma kinase in pediatric cancers

Takita

2017

Cancer Science

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The anaplastic lymphoma kinase (ALK) gene was initially identified as a fusion partner of the nucleophosmin gene in anaplastic large‐cell lymphoma with t(2;5)(p23;q35) translocation, and then described with different genetic abnormalities in a number of tumors. Although ALK is known to be involved in the pathogenesis of neuroblastoma through activating mutations or gene amplification, its role in the pathogenesis of other pediatric cancers is still elusive. In addition to neuroblastoma, the high‐grade amplification of ALK has been described in a subset of rhabdomyosarcoma cases. Normal ALK protein expression is restricted to the nervous systems of adult mammals, but the aberrant expression of ALK has been observed in a variety of pediatric cancers, including glioma and Ewing sarcoma. The discovery of oncogenic activation of ALK in neuroblastoma suggests that this cancer could be potentially treated with an ALK inhibitor, as could other cancers, such as non‐small‐cell lung cancer and anaplastic large‐cell lymphoma. However, cellular responses to mutant ALK are complex when compared to rearranged ALK, and treatment remains a challenge. This review focuses on the biology of ALK in pediatric cancers and possible therapeutic strategies for ALK‐associated tumors.

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“…In AT ALK + RCC cases, there was no preference for either sex (4:5) and no sickle cell trait. TPM3, EML4 and STRN are known as fusion partners, and TFE3 is negative in all documented cases, except for our case …”

Section: Discussionmentioning

confidence: 50%

“…Although the significance of the difference in TFE3 expression between JT and AT ALK + RCC cases remains uncertain, positive staining of TFE3 protein does not definitely mean TFE3 rearrangement in renal cancers . TFE3 rearrangement of ALK + RCC has not be detected by FISH . Positive staining of TFE3 might indicate amplification of MiTF signals by a mechanism other than translocation.…”

Section: Discussionmentioning

confidence: 98%

“…Furthermore, ALK inhibitors, crizotinib and alectinib, are very effective against ALK‐positive lung cancer, and ALK‐based medications have attracted considerable attention for the treatment of other ALK‐positive cancers . Under these circumstances, there have been 16 cases of ALK‐ positive renal cell carcinoma (ALK + RCC) since the first report in 2011 . Herein, we report an additional case of ALK + RCC with a review of the literature.…”

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confidence: 99%

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A case of anaplastic lymphoma kinase‐positive renal cell carcinoma coincident with Hodgkin lymphoma

Oyama

Nishida

Kusaba

et al. 2017

Pathology International

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We report a case of ALK-positive renal cell carcinoma coincident with Hodgkin lymphoma. The patient was a 19 year-old-girl without sickle cell trait. The right renal tumor was discovered concomitantly with Hodgkin lymphoma (HL). After chemotherapy for HL, right nephrectomy was performed. Microscopically, the tumor showed a solid and focally pseudo-papillary growth pattern studded with tubular structures. Most tumor cells were small bland eosinophilic cells, but rhabdoid cells, vacuolated cells, pleomorphic multinucleated giant cells were also admixed. The variety of growth patterns and cell features led us to speculate a possibility of ALK-positive renal cell carcinoma (ALK + RCC). ALK was immunohistochemically positive, and fluorescence in situ hybridization analysis detected a split signal of the ALK gene. We examined previously reported partner genes (STRN, TPM3, VCL and EML4) by RT-PCR, but fusion gene was not detected. RCC showing solid or cribriform growth patterns with vacuolated cells with intracytoplamic lumina, rhabdoid cells, and mucus production indicates the possibility of ALK + RCC.

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ALK rearrangements-associated renal cell carcinoma (RCC) with unique pathological features in an adult

Cited by 24 publications

References 12 publications

New and emerging renal entities: a perspective post‐WHO 2016 classification

New and emerging renal entities: a perspective post‐WHO 2016 classification

The role of anaplastic lymphoma kinase in pediatric cancers

A case of anaplastic lymphoma kinase‐positive renal cell carcinoma coincident with Hodgkin lymphoma

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